Product Details

SNP ID
rs201123892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11350853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCAGGGAGAGAAGGAGGAGCACA[A/G]GTGGGGCATGGAGCAGGGCCGGCAG
Phenotype
MIM: 613771
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC159 PubMed Links

Gene Details

Gene
CCDC159
Gene Name
coiled-coil domain containing 159
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080503.2 543 Missense Mutation AAG,AGG K91R NP_001073972.2
XM_006722643.1 543 Missense Mutation AAG,AGG K127R XP_006722706.1
XM_011527678.2 543 Missense Mutation AAG,AGG K90R XP_011525980.2
XM_017026255.1 543 Missense Mutation AAG,AGG K127R XP_016881744.1
XM_017026256.1 543 Missense Mutation AAG,AGG K125R XP_016881745.1
XM_017026257.1 543 Missense Mutation AAG,AGG K100R XP_016881746.1
XM_017026258.1 543 Missense Mutation AAG,AGG K91R XP_016881747.1
XM_017026259.1 543 Missense Mutation AAG,AGG K90R XP_016881748.1
XM_017026260.1 543 Missense Mutation AAG,AGG K90R XP_016881749.1
XM_017026261.1 543 Missense Mutation AAG,AGG K68R XP_016881750.1
XM_017026262.1 543 Missense Mutation AAG,AGG K68R XP_016881751.1
XM_017026263.1 543 Missense Mutation AAG,AGG K68R XP_016881752.1
XM_017026264.1 543 Missense Mutation AAG,AGG K68R XP_016881753.1
Gene
PLPPR2
Gene Name
phospholipid phosphatase related 2
There are no transcripts associated with this gene.

Gene
TMEM205
Gene Name
transmembrane protein 205
There are no transcripts associated with this gene.

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